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Rare Diseases under letter "L"
L1 syndrome ↗ L-2-hydroxyglutaricaciduria ↗ LAAHD ↗ Laband syndrome ↗ Lacrimo-auriculo-dento-digital syndrome ↗ Lacrimo-auriculo-radio-dental syndrome ↗ Lactate dehydrogenase deficiency ↗ Lactotroph adenoma ↗ LAD ↗ LAD-1 variant ↗ Ladda-Zonana-Ramer syndrome ↗ LADD syndrome ↗ LAD-I ↗ LAD-II ↗ LAD-III ↗ LAEB ↗ Lafora disease ↗ Lagophthalmia - cleft lip and palate ↗ Laing distal myopathy ↗ Laing early-onset distal myopathy ↗ LAM ↗ Lambert-Eaton myasthenic syndrome ↗ Lambert syndrome ↗ Lamellar cataract ↗ Lamellar ichthyosis ↗ Laminopathy type Decaudain-Vigouroux ↗ Laminopathy with severe metabolic syndrome and myopathy ↗ LAMM syndrome ↗ Landau-Kleffner syndrome ↗ Landing disease ↗ Landouzy-Dejerine myopathy ↗ Lane disease ↗ Langer-Giedion syndrome ↗ Langerhans cell granulomatosis ↗ Langerhans cell granulomatosis in childhood and adulthood ↗ Langerhans cell granulomatosis specific to adulthood ↗ Langerhans cell granulomatosis specific to childhood ↗ Langerhans cell histiocytosis ↗ Langerhans cell histiocytosis in childhood and adulthood ↗ Langerhans cell histiocytosis specific to adulthood ↗ Langerhans cell histiocytosis specific to childhood ↗ Langerhans cell sarcoma ↗ Langer mesomelic dysplasia ↗ Laparoschisis ↗ Laplane-Fontaine-Lagardere syndrome ↗ LARD syndrome ↗ Large congenital melanocytic nevus ↗ Laron-like syndrome ↗ Laron syndrome ↗ Laron syndrome with immunodeficiency ↗ Laron-type dwarfism ↗ Larsen-like osseous dysplasia - short stature ↗ Larsen syndrome ↗ Laryngeal abductor paralysis ↗ Laryngeal abductor paralysis - intellectual deficit ↗ Laryngeal and ocular granulation in Indian children ↗ Laryngeal cyst ↗ Laryngeal dyskinesia ↗ Laryngeal dystonia ↗ Laryngocele ↗ Laryngo-onycho-cutaneous syndrome ↗ Laryngotracheal angioma ↗ Laryngo-tracheo-esophageal cleft ↗ Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia ↗ Laryngo-tracheo-esophageal cleft type 0 ↗ Laryngo-tracheo-esophageal cleft type 1 ↗ Laryngo-tracheo-esophageal cleft type 2 ↗ Laryngo-tracheo-esophageal cleft type 3 ↗ Laryngo-tracheo-esophageal cleft type 4 ↗ Laryngo-tracheo-esophageal diastema ↗ Larynx atresia ↗ Lassa fever ↗ Late infantile NCL ↗ Late infantile neuronal ceroid lipofuscinosis ↗ Late-infantile or juvenile Krabbe disease ↗ Late-onset autosomal recessive medullary cystic kidney disease ↗ Late onset benign childhood occipital epilepsy ↗ Late-onset citrullinemia type 1 ↗ Late-onset citrullinemia type I ↗ Late-onset focal dermal elastosis ↗ Late-onset infantile spasms ↗ Late-onset isolated ACTH deficiency ↗ Late-onset junctional epidermolysis bullosa ↗ Late-onset localized junctional epidermolysis bullosa - intellectual deficit ↗ Late-onset multiple carboxylase deficiency ↗ Late-onset retinal degeneration ↗ Lateralization defect ↗ Lateral meningocele syndrome ↗ Laterofacial microsomia ↗ Lathosterolosis ↗ Lattice corneal dystrophy type 1 ↗ Lattice corneal dystrophy type 3a ↗ Laubry-Pezzi syndrome ↗ Launois-Bensaude adenolipomatosis ↗ Laurence-Moon syndrome ↗ Laurin-Sandrow syndrome ↗ Lawrence-Seip syndrome ↗ Lawrence syndrome ↗ Laxova-Opitz syndrome ↗ LBSL ↗ LBWC syndrome ↗ LCAD ↗ LCAT deficiency ↗ LCDD ↗ LCHAD deficiency ↗ L-CMD ↗ LCMN ↗ L-CPT1 deficiency ↗ L-CPTI deficiency ↗ LDD ↗ Learman syndrome ↗ Leber hereditary optic neuropathy ↗ Leber miliary aneurysm ↗ Leber optic atrophy ↗ Leber 'plus' disease ↗ Lecithin-cholesterol acyltransferase deficiency ↗ Ledderhose disease ↗ Left renal vein entrapment syndrome ↗ Left superior caval vein persisting to left-sided atrium ↗ Left superior vena cava persisting to left-sided atrium ↗ Left SVC persisting to left-sided atrium ↗ Left ventricular hypertrabeculation ↗ Left ventricular noncompaction ↗ Left ventricular-to-right atrial communication ↗ Leg duplication - mirror foot ↗ Legg-Calve-Perthes disease ↗ Legionellosis ↗ Legionnaires' disease ↗ Legius syndrome ↗ Lehman syndrome ↗ Leichtman-Wood-Rohn syndrome ↗ Leigh disease ↗ Leigh disease with leukodystrophy ↗ Leigh disease with myopathy ↗ Leigh disease with nephrotic syndrome ↗ Leigh syndrome ↗ Leigh syndrome, French-Canadian type ↗ Leigh syndrome, Saguenay-Lac-St. Jean type ↗ Leigh syndrome with leukodystrophy ↗ Leigh syndrome with myopathy ↗ Leigh syndrome with nephrotic syndrome ↗ Leiner disease ↗ Leiomyomatosis peritonealis disseminate ↗ Leiomyosarcoma ↗ Leiomyosarcoma of the cervix uteri ↗ Leiomyosarcoma of the corpus uteri ↗ Leipala-Kaitila syndrome ↗ Leishmaniasis ↗ Leisti-Hollister-Rimoin syndrome ↗ Lelis syndrome ↗ Le Marec-Bracq-Picaud syndrome ↗ Le Merrer syndrome ↗ Lemierre syndrome ↗ Lennox-Gastaut syndrome ↗ Lenz-Majewski hyperostotic dwarfism ↗ Lenz microphthalmia ↗ LEOPARD syndrome ↗ Leprechaunism ↗ Leprosy ↗ Leptomeningeal melanomatosis ↗ Leptomyelolipoma ↗ Leptospirosis ↗ Leri pleonosteosis ↗ Léri-Weill dyschondrosteosis ↗ Léri-Weill syndrome ↗ Lesch-Nyhan syndrome ↗ Leshima-Koeda-Inagaki syndrome - intellectual deficit ↗ Lethal acantholytic epidermolysis bullosa ↗ Lethal arthrogryposis - anterior horn cell disease ↗ Lethal ataxia with deafness and optic atrophy ↗ Lethal bone dysplasia, Holmgren type ↗ Lethal chondrodysplasia, Moerman type ↗ Lethal chondrodysplasia, Seller type ↗ Lethal congenital contracture syndrome type 1 ↗ Lethal congenital contracture syndrome type 2 ↗ Lethal congenital contracture syndrome type 3 ↗ Lethal faciocardiomelic dysplasia ↗ Lethal hemolytic anemia - genital anomalies ↗ Lethal idiopathic viral infection ↗ Lethal infantile mitochondrial disease ↗ Lethal infantile mitochondrial myopathy ↗ Lethal Kniest-like dysplasia ↗ Lethal Larsen-like syndrome ↗ Lethal multiple pterygium syndrome ↗ Lethal neonatal chondrodysplasia punctata ↗ Lethal omphalocele-cleft palate syndrome ↗ Lethal osteosclerotic bone dysplasia ↗ Lethal polymalformative syndrome, Boissel type ↗ Lethal popliteal pterygium syndrome ↗ Lethal recessive chondrodysplasia ↗ Lethal restrictive dermopathy ↗ Lethal variant of Simpson-Golabi-Behmel syndrome ↗ Letterer-Siwe disease ↗ Leucinosis ↗ Leukemic Reticuloendotheliosis ↗ Leukocyte adhesion deficiency ↗ Leukocyte adhesion deficiency-1 variant ↗ Leukocyte adhesion deficiency type I ↗ Leukocyte adhesion deficiency type II ↗ Leukocyte adhesion deficiency type III ↗ Leukodystrophy, Reunion type ↗ Leukodystrophy - spastic paraplegia - dystonia ↗ Leukodystrophy with oligodontia ↗ Leukoencephalopathy - ataxia - hypodontia - hypomyelination ↗ Leukoencephalopathy - dystonia - motor neuropathy ↗ Leukoencephalopathy - metaphyseal chondrodysplasia ↗ Leukoencephalopathy - palmoplantar keratoderma ↗ Leukoencephalopathy with bilateral anterior temporal lobe cysts ↗ Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation ↗ Leukoencephalopathy with vanishing white matter ↗ Leukomelanoderma - intellectual deficit - hypotrichosis ↗ Leukonychia totalis ↗ Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair ↗ Leukonychia totalis - trichilemmal cysts - ciliary dystrophy ↗ Leukotriene C4 synthase deficiency ↗ Levic-Stefanovic-Nikolic syndrome ↗ Levine-Critchley syndrome ↗ Lev-Lenegre disease ↗ Levocardia ↗ Levocardia-situs inversus ↗ Levo-transposition of the great arteries ↗ Levy-Hollister syndrome ↗ Lewandowsky-Lutz syndrome ↗ Lewis-Pashayan syndrome ↗ Lewis-Sumner syndrome ↗ Lewy body dementia ↗ Leydig cell hypoplasia ↗ LGMD1A ↗ LGMD1B ↗ LGMD1C ↗ LGMD1D ↗ LGMD1E ↗ LGMD1F ↗ LGMD1G ↗ LGMD1H ↗ LGMD2A ↗ LGMD2B ↗ LGMD2C ↗ LGMD2D ↗ LGMD2E ↗ LGMD2F ↗ LGMD2G ↗ LGMD2H ↗ LGMD2I ↗ LGMD2J ↗ LGMD2K ↗ LGMD2L ↗ LGMD2M ↗ LGMD2N ↗ LGMD2O ↗ LGMD2Q ↗ LHCDD ↗ Lhermitte-Duclos disease ↗ LHON ↗ LH resistance due to complete LH receptor inactivation ↗ LH resistance due to LH receptor inactivation ↗ LH resistance due to partial LH receptor inactivation ↗ LI ↗ Lichen amyloidosis ↗ Lichen follicularis ↗ Lichenoid melanodermatitis ↗ Lichen planopilaris ↗ Lichen plan pigmentosa ↗ Lichen planus actinus ↗ Lichen planus follicularis ↗ Lichen planus pemphigoides ↗ Lichen planus pigmentosus ↗ Lichen planus pigmentosus inversus ↗ Lichen planus subtropicus ↗ Lichen planus tropicus ↗ Lichstenstein syndrome ↗ Liddle syndrome ↗ Li-Fraumeni syndrome ↗ LIG4 syndrome ↗ Ligase 4 syndrome ↗ Light and heavy chain deposition disease ↗ Light chain deposition disease ↗ Ligneous conjunctivitis ↗ Limb body wall complex ↗ Limb dystonia ↗ Limb girdle dystrophy with epidermolysis bullosa simplex ↗ Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency ↗ Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency ↗ Limb girdle muscular dystrophy due to calpain deficiency ↗ Limb-girdle muscular dystrophy due to calveolin-3 deficiency ↗ Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency ↗ Limb-girdle muscular dystrophy due to dysferlin deficiency ↗ Limb girdle muscular dystrophy due to FKRP deficiency ↗ Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency ↗ Limb-girdle muscular dystrophy due to lamin A/C deficiency ↗ Limb-girdle muscular dystrophy due to myotilin deficiency ↗ Limb girdle muscular dystrophy due to telethonin deficiency ↗ Limb-girdle muscular dystrophy due to TRIM32 deficiency ↗ Limb-girdle muscular dystrophy - intellectual deficit ↗ Limb-girdle muscular dystrophy with Paget disease of bone ↗ Limbic encephalitis ↗ Limbic encephalitis associated with NMDA receptor antibodies ↗ Limbic encephalitis associated with N-methyl-D-aspartate receptor antibodies ↗ Limbic encephalitis - neuromyotonia - hyperhidrosis - polyneuropathy ↗ Limbic encephalitis with caspr2 antibodies ↗ Limbic encephalitis, with nCMAgs antibodies ↗ Limbic encephalitis, with novel Cell Membrane Antigens antibodies ↗ Limbic encephalitis with VGKC antibodies ↗ Limbic encephalitis with voltage-gated potassium channel antibodies ↗ Limb-mammary syndrome ↗ Limb, scalp and skull defects ↗ Limb transversal defect - cardiac anomaly ↗ LIMD ↗ Limit dextrinosis ↗ Limited cutaneous systemic scleroderma ↗ Limited cutaneous systemic sclerosis ↗ Limited systemic sclerosis ↗ LINCL ↗ Lindau disease ↗ Lindsay-Burn syndrome ↗ Linear and whorled nevoid hypermelanosis ↗ Linear atrophoderma of Moulin ↗ Linear focal dermal elastosis ↗ Linear hamartoma syndrome ↗ Linear IgA dermatosis ↗ Linear inflammatory verrucous epidermal nevus ↗ Linear lichen planus ↗ Linear LP ↗ Linear nevus sebaceus syndrome ↗ Linear verrucous nevus syndrome ↗ Linitis plastica of the stomach ↗ Lipedema ↗ Lipidosis with triglyceride storage disease ↗ Lipoamide dehydrogenase deficiency ↗ Lipoatrophic diabetes ↗ Lipoblastoma ↗ Lipodystrophy due to peptidic growth factors deficiency ↗ Lipodystrophy-HIV related ↗ Lipodystrophy in Human Immunodeficiency Virus-infected patients ↗ Lipodystrophy - intellectual deficit - deafness ↗ Lipodystrophy - Rieger anomaly - diabetes ↗ Lipoid dermatoarthritis ↗ Lipoid proteinosis ↗ Lipomatosis dolorosa ↗ Lipomatous mesenteritis ↗ Lipomucopolysaccharidosis ↗ Lipomyelomeningocele ↗ Lipoprotein lipase deficiency ↗ Liposarcoma ↗ Liposclerotic mesenteritis ↗ Lipoyl-containing pyruvate dehydrogenase complex component X deficiency ↗ Lip-pit syndrome ↗ Lisker-Garcia-Ramos syndrome ↗ Lison syndrome ↗ Lissencephaly due to 17p13.3 deletion ↗ Lissencephaly due to LIS1 mutation ↗ Lissencephaly due to TUBA1A mutation ↗ Lissencephaly syndrome, Norman-Roberts type ↗ Lissencephaly type 1 due to doublecortin gene mutation ↗ Lissencephaly type 3 - familial fetal akinesia sequence ↗ Lissencephaly type 3 - metacarpal bone dysplasia ↗ Lissencephaly with cerebellar hypoplasia type A ↗ Lissencephaly with cerebellar hypoplasia type B ↗ Lissencephaly with cerebellar hypoplasia type C ↗ Lissencephaly with cerebellar hypoplasia type D ↗ Lissencephaly with cerebellar hypoplasia type E ↗ Lissencephaly with cerebellar hypoplasia type F ↗ Listeriosis ↗ Little syndrome ↗ Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy ↗ Liver glycogen phosphorylase deficiency ↗ Liver glycogen synthase deficiency ↗ Liver phosphorylase deficiency ↗ LM ↗ LMNA-related congenital muscular dystrophy ↗ LMS ↗ Lobar atrophy of brain ↗ Lobar holoprosencephaly ↗ Lobstein disease ↗ Lobster-claw deformity ↗ Localised lichen myxedematosus ↗ Localised lichen myxedematosus with mixed features of different subtypes ↗ Localised lichen myxedematosus with monoclonal gammopathy or systemic symptoms ↗ Localized acanthokeratolytic palmoplantar hyperkeratosis ↗ Localized Castleman disease ↗ Localized deciduous skin ↗ Localized epidermolytic palmoplantar hyperkeratosis ↗ Localized epiphyseal dysplasia ↗ Localized fibrosing scleroderma ↗ Localized junctional epidermolysis bullosa, non-Herlitz type ↗ Localized pagetoid reticulosis ↗ Localized peeling skin syndrome ↗ Localized pustular psoriasis ↗ Localized scleroderma ↗ Locked-in syndrome ↗ Loeffler's endocarditis ↗ Loeys-Dietz syndrome ↗ Loffredo-Cennamo-Cecio syndrome ↗ LOGIC syndrome ↗ Logopenic primary progressive aphasia ↗ Logopenic progressive aphasia ↗ Logopenic variant PPA ↗ Loiasis ↗ Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ↗ Long chain Acyl-CoA dehydrogenase deficiency ↗ Long eyelashes - intellectual deficit ↗ Longitudinal vaginal septum ↗ Longman-Tolmie syndrome ↗ Long QT interval - deafness ↗ Long QT syndrome - syndactyly ↗ Long QT syndrome type 8 ↗ Loose anagen syndrome ↗ Lopes-Gorlin syndrome ↗ Lopes-Marques de Faria syndrome ↗ Lopez-Hernandez syndrome ↗ LORD ↗ Loricrin keratoderma ↗ Lou-Gehrig disease ↗ Louis-Bar syndrome ↗ Low birth weight - dwarfism - dysgammaglobulinemia ↗ Lowe disease ↗ Lowe-Kohn-Cohen syndrome ↗ Lowe oculo-cerebro-renal syndrome ↗ Lower limb deficiency - hypospadias ↗ Lower lip fistula ↗ Lower motor neuron syndrome with late-adult onset ↗ Lowe syndrome ↗ Low-flow priapism ↗ Low grade ependymoma ↗ Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis ↗ Lown-Ganong-Levine syndrome ↗ Low phospholipid associated cholelithiasis ↗ Lowry-MacLean syndrome ↗ Lowry syndrome ↗ Lowry-Wood syndrome ↗ Lowry-Yong syndrome ↗ LPA ↗ LPD ↗ LPI ↗ LPP ↗ LPP ↗ LP pemphigoides ↗ LP pigmentosa ↗ LP pigmentosus ↗ LQT7 ↗ LQT8 ↗ LTC4 synthase deficiency ↗ LTEC0 ↗ L-transposition of the great arteries ↗ Lubag ↗ Lubani-Al Saleh-Teebi syndrome ↗ Lubinsky syndrome ↗ Lubs-Arena Syndrome ↗ Lucey driscoll syndrome ↗ Lujan-Fryns syndrome ↗ Lumbar malsegmentation - short stature ↗ Lumbosacral spina bifida aperta ↗ Lumbosacral spina bifida cystica ↗ Lunatomalacia ↗ Lundberg syndrome ↗ Lung agenesis - heart defect - thumb anomalies ↗ Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis ↗ Lupus erythematosus panniculitis ↗ Lupus erythematosus profundus ↗ Lupus erythematosus tumidus ↗ Luteinizing hormone-releasing hormone deficiency with ataxia ↗ Lutz-Lewandowsky epidermodysplasia verruciformis ↗ Lutz-Richner-Landolt syndrome ↗ Lyell syndrome ↗ Lyme borreliosis ↗ Lyme disease ↗ Lymphangioleiomyomatosis ↗ Lymphangioma ↗ Lymphatic filariasis ↗ Lymphatic malformation ↗ Lymphedema - atrial septal defects - facial changes ↗ Lymphedema - cerebral arteriovenous anomaly ↗ Lymphedema - cleft palate ↗ Lymphedema - distichiasis ↗ Lymphedema - hydrocele - cardiac defects ↗ Lymphedema - hypoparathyroidism ↗ Lymphedema - lymphangiectasia - intellectual deficit ↗ Lymphedema praecox ↗ Lymphedema - ptosis ↗ Lymphedema tarda ↗ Lymphedema - yellow nails ↗ Lymphocyte-depleted classical Hodgkin lymphoma ↗ Lymphocyte-rich classical Hodgkin lymphoma ↗ Lymphocytic colitis ↗ Lymphoid interstitial pneumonia ↗ Lymphomatoid granulomatosis ↗ Lymphomatoid papulosis ↗ Lymphoplasmacytic lymphoma ↗ Lymphoplasmacytic sclerosing pancreatitis ↗ Lynch-Lee-Murday syndrome ↗ Lynch syndrome ↗ Lyngstadaas syndrome ↗ Lysine alpha-ketoglutarate reductase deficiency ↗ Lysinuric protein intolerance ↗ Lysosomal acid lipase deficiency ↗ Lysosomal alpha-D-mannosidase deficiency ↗ Lysosomal glycogen storage disease with normal acid maltase activity ↗ Lysozyme amyloidosis ↗ Lytico-bodig disease ↗